#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PHRF1	57661	broad.mit.edu	37	11	609063	609063	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr11:609063C>T	ENST00000264555.5	+	14	3735	c.3607C>T	c.(3607-3609)Cca>Tca	p.P1203S	PHRF1_ENST00000413872.2_Missense_Mutation_p.P1201S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P1202S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P1199S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1203					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGAGGCTTCCCCAGCGCCCCT	0.701																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(3607-3609)Cca>Tca		PHD and ring finger domains 1							8.0	10.0	10.0					11																	609063		1978	4115	6093	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:609063C>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.3607C>T	11.37:g.609063C>T	ENSP00000264555:p.Pro1203Ser		Somatic				PHRF1_ENST00000413872.2_Missense_Mutation_p.P1201S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P1199S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P1202S	p.P1203S	NM_020901.2	NP_065952.2	WXS	Illumina GAIIx	Phase_I	Q9P1Y6	PHRF1_HUMAN			14	3735	+			1203					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.3607C>T		.	.	.	.	.	.	.	.	.	.	C	15.80	2.940513	0.52972	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.81078	-1.44;-1.44;-1.45;-1.45	4.42	2.42	0.29668	.	0.585786	0.14227	N	0.332962	T	0.77870	0.4195	L	0.29908	0.895	0.09310	N	1	D;B;B;B	0.58268	0.982;0.123;0.123;0.075	P;B;B;B	0.54664	0.758;0.039;0.039;0.017	T	0.66476	-0.5914	10	0.52906	T	0.07	-7.2646	8.9007	0.35493	0.169:0.668:0.163:0.0	.	1199;1201;1202;1203	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	1203;1201;1202;1199	ENSP00000264555:P1203S;ENSP00000388589:P1201S;ENSP00000410626:P1202S;ENSP00000431870:P1199S	ENSP00000264555:P1203S	P	+	1	0	PHRF1	599063	0.057000	0.20700	0.011000	0.14972	0.050000	0.14768	1.411000	0.34702	0.423000	0.26033	0.462000	0.41574	CCA		0.701	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		2	2	0	0	0	1	0	2	2				
MSS51	118490	broad.mit.edu	37	10	75186442	75186442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr10:75186442C>T	ENST00000372912.1	-	3	427	c.425G>A	c.(424-426)tGg>tAg	p.W142*	MSS51_ENST00000299432.2_Nonsense_Mutation_p.W142*|AL353731.1_ENST00000584907.1_RNA			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	142					social behavior (GO:0035176)		metal ion binding (GO:0046872)										GTGTGCGGGCCAGTCTGACTT	0.478																																						ENST00000299432.2																			0											c.(424-426)tGg>tAg		MSS51 mitochondrial translational activator							160.0	143.0	149.0					10																	75186442		2203	4300	6503	SO:0001587	stop_gained	118490						zinc ion binding	g.chr10:75186442C>T	AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"""Zinc fingers, MYND-type"""	21000	protein-coding gene	gene with protein product		614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.425G>A	10.37:g.75186442C>T	ENSP00000362003:p.Trp142*		Somatic				MSS51_ENST00000372912.1_Nonsense_Mutation_p.W142*	p.W142*	NM_001024593.1	NP_001019764.1	WXS	Illumina GAIIx	Phase_I	Q4VC12	ZMY17_HUMAN			4	490	-			142					A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Nonsense_Mutation	SNP	ENST00000372912.1	37	c.425G>A	CCDS31221.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809603	0.90707	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	.	.	.	5.72	4.82	0.62117	.	0.125208	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2455	12.5431	0.56184	0.0:0.9195:0.0:0.0805	.	.	.	.	X	142	.	ENSP00000299432:W142X	W	-	2	0	ZMYND17	74856448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.568000	0.67385	1.427000	0.47276	0.650000	0.86243	TGG		0.478	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3	NM_178451		38	51	0	0	0	1	0	38	51				
DNAH17	8632	broad.mit.edu	37	17	76570918	76570918	+	Silent	SNP	G	G	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr17:76570918G>T	ENST00000585328.1	-	2	346	c.222C>A	c.(220-222)tcC>tcA	p.S74S	DNAH17_ENST00000389840.5_Silent_p.S74S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	74	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAACCCCTTTGGACTTGAGGG	0.567																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(220-222)tcC>tcA		dynein, axonemal, heavy chain 17							122.0	130.0	127.0					17																	76570918		2026	4180	6206	SO:0001819	synonymous_variant	8632							g.chr17:76570918G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.222C>A	17.37:g.76570918G>T			Somatic				DNAH17_ENST00000585328.1_Silent_p.S74S	p.S74S			WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		2	346	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.222C>A																																																																																					0.567	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		3	45	1	0	0.115264	1	0.115264	3	45				
TRIM62	55223	broad.mit.edu	37	1	33612880	33612880	+	Silent	SNP	G	G	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr1:33612880G>A	ENST00000291416.5	-	5	1559	c.1326C>T	c.(1324-1326)cgC>cgT	p.R442R	TRIM62_ENST00000543586.1_Silent_p.R321R	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	442	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGAACTTCTCGCGGAAGGTGT	0.557																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1324-1326)cgC>cgT		tripartite motif containing 62							108.0	95.0	99.0					1																	33612880		2203	4300	6503	SO:0001819	synonymous_variant	55223					intracellular	zinc ion binding	g.chr1:33612880G>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1326C>T	1.37:g.33612880G>A			Somatic				TRIM62_ENST00000543586.1_Silent_p.R321R	p.R442R	NM_018207.2	NP_060677.2	WXS	Illumina GAIIx	Phase_I	Q9BVG3	TRI62_HUMAN			5	1559	-		Myeloproliferative disorder(586;0.0393)	442			B30.2/SPRY.		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	ENST00000291416.5	37	c.1326C>T	CCDS376.1																																																																																				0.557	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		20	28	0	0	0	1	0	20	28				
WISP1	8840	broad.mit.edu	37	8	134239886	134239886	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr8:134239886G>A	ENST00000250160.6	+	5	1143	c.1037G>A	c.(1036-1038)tGt>tAt	p.C346Y	WISP1_ENST00000517423.1_3'UTR|WISP1-UT1_ENST00000602893.1_RNA|WISP1_ENST00000519433.1_Missense_Mutation_p.C101Y|WISP1_ENST00000220856.6_Missense_Mutation_p.C259Y|WISP1_ENST00000377863.2_Missense_Mutation_p.C174Y	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	346	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AACCTGAGCTGTAGGAATCCC	0.493																																						ENST00000250160.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(1036-1038)tGt>tAt		WNT1 inducible signaling pathway protein 1							156.0	124.0	135.0					8																	134239886		2203	4300	6503	SO:0001583	missense	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134239886G>A	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.1037G>A	8.37:g.134239886G>A	ENSP00000250160:p.Cys346Tyr		Somatic				WISP1_ENST00000377863.2_Missense_Mutation_p.C174Y|WISP1_ENST00000519433.1_Missense_Mutation_p.C101Y|WISP1_ENST00000220856.6_Missense_Mutation_p.C259Y|WISP1_ENST00000517423.1_3'UTR	p.C346Y	NM_003882.3	NP_003873.1	WXS	Illumina GAIIx	Phase_I	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		5	1143	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		346			CTCK.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.1037G>A	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730316	0.89390	.	.	ENSG00000104415	ENST00000250160;ENST00000519433;ENST00000377863;ENST00000220856	D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84	5.93	5.93	0.95920	Cystine knot (1);Cystine knot, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	M	0.89534	3.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.99505	1.0954	10	0.87932	D	0	-26.2814	19.3291	0.94278	0.0:0.0:1.0:0.0	.	101;174;259;346	O95388-3;Q5JBS7;O95388-2;O95388	.;.;.;WISP1_HUMAN	Y	346;101;174;259	ENSP00000250160:C346Y;ENSP00000429185:C101Y;ENSP00000367094:C174Y;ENSP00000220856:C259Y	ENSP00000220856:C259Y	C	+	2	0	WISP1	134309068	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.773000	0.98989	2.814000	0.96858	0.655000	0.94253	TGT		0.493	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		20	44	0	0	0	1	0	20	44				
NLRP3	114548	broad.mit.edu	37	1	247582115	247582115	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr1:247582115C>T	ENST00000336119.3	+	1	765	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	NLRP3_ENST00000348069.2_Missense_Mutation_p.R7C|NLRP3_ENST00000366496.2_Missense_Mutation_p.R7C|NLRP3_ENST00000391827.2_Missense_Mutation_p.R7C|NLRP3_ENST00000366497.2_Missense_Mutation_p.R7C|NLRP3_ENST00000391828.3_Missense_Mutation_p.R7C|NLRP3_ENST00000474792.1_3'UTR	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	7	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGCAAGCACCCGCTGCAAGCT	0.527																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(19-21)Cgc>Tgc		NLR family, pyrin domain containing 3							43.0	45.0	44.0					1																	247582115		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247582115C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.19C>T	1.37:g.247582115C>T	ENSP00000337383:p.Arg7Cys		Somatic				NLRP3_ENST00000348069.2_Missense_Mutation_p.R7C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.R7C|NLRP3_ENST00000391827.2_Missense_Mutation_p.R7C|NLRP3_ENST00000366496.2_Missense_Mutation_p.R7C|NLRP3_ENST00000391828.3_Missense_Mutation_p.R7C	p.R7C	NM_001127461.2	NP_001120933.1	WXS	Illumina GAIIx	Phase_I	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		2	799	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	7			DAPIN.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.19C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669103	0.67814	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	4.49	4.49	0.54785	Pyrin (2);DEATH-like (2);	0.150326	0.30565	N	0.009356	T	0.65154	0.2664	M	0.68317	2.08	0.54753	D	0.999987	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.994;0.973;0.982;0.973;1.0	T	0.67643	-0.5618	10	0.66056	D	0.02	.	12.8787	0.58003	0.0:1.0:0.0:0.0	.	7;7;7;7;7	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	C	7	ENSP00000375704:R7C;ENSP00000355453:R7C;ENSP00000337383:R7C;ENSP00000294752:R7C;ENSP00000355452:R7C;ENSP00000375703:R7C	ENSP00000337383:R7C	R	+	1	0	NLRP3	245648738	0.910000	0.30920	0.951000	0.38953	0.743000	0.42351	1.560000	0.36331	2.498000	0.84270	0.561000	0.74099	CGC		0.527	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		8	23	0	0	0	1	0	8	23				
FANCD2	2177	broad.mit.edu	37	3	10140562	10140562	+	Intron	SNP	T	T	C			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr3:10140562T>C	ENST00000419585.1	+	43	4442				FANCD2_ENST00000383806.1_Intron|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000287647.3_Silent_p.S1448S|FANCD2_ENST00000383807.1_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2						DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTGTTCTAAGTTGGTGGAGCA	0.423			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(4342-4344)agT>agC	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							186.0	169.0	175.0					3																	10140562		2203	4300	6503	SO:0001627	intron_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10140562T>C	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.4281+63T>C	3.37:g.10140562T>C			Somatic				FANCD2_ENST00000383807.1_Intron|FANCD2_ENST00000383806.1_Intron|FANCD2_ENST00000419585.1_Intron|FANCD2OS_ENST00000524279.1_Intron	p.S1448S	NM_033084.3	NP_149075.2	WXS	Illumina GAIIx	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	43	4437	+			1448					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.4344T>C	CCDS33696.1																																																																																				0.423	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			28	38	0	0	0	1	0	28	38				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A			Somatic				EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q	p.Q2761Q			WXS	Illumina GAIIx	Phase_I	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	37	0	0	0	1	0	6	37				
DEDD	9191	broad.mit.edu	37	1	161092816	161092816	+	Intron	SNP	T	T	C			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr1:161092816T>C	ENST00000368006.3	-	5	795				DEDD_ENST00000490843.2_Intron|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000392188.1_Missense_Mutation_p.Y210C|DEDD_ENST00000458050.2_Intron|DEDD_ENST00000368005.1_Missense_Mutation_p.Y210C|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000545495.1_Intron	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing						decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CAGTTCTTTATATTCTCCTTC	0.478																																						ENST00000392188.1																			0				cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10						c.(628-630)tAt>tGt		death effector domain containing							106.0	102.0	103.0					1																	161092816		2203	4300	6503	SO:0001627	intron_variant	9191				apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr1:161092816T>C	AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.580+48A>G	1.37:g.161092816T>C			Somatic				DEDD_ENST00000489249.1_Intron|DEDD_ENST00000490843.2_Intron|DEDD_ENST00000458050.2_Intron|DEDD_ENST00000368006.3_Intron|DEDD_ENST00000545495.1_Intron|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368005.1_Missense_Mutation_p.Y210C	p.Y210C			WXS	Illumina GAIIx	Phase_I	O75618	DEDD_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		5	863	-	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		194					D3DVF5|O60737	Missense_Mutation	SNP	ENST00000368006.3	37	c.629A>G	CCDS1219.1	.	.	.	.	.	.	.	.	.	.	T	5.226	0.227117	0.09916	.	.	ENSG00000158796	ENST00000392188;ENST00000368005	.	.	.	3.53	-2.9	0.05648	.	3.295540	0.01151	U	0.006438	T	0.12475	0.0303	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24297	-1.0164	8	0.38643	T	0.18	.	9.2184	0.37362	0.0:0.5916:0.0:0.4084	.	210	B1AQP5	.	C	210	.	ENSP00000356984:Y210C	Y	-	2	0	DEDD	159359440	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.657000	0.05335	-0.487000	0.06735	-0.589000	0.04120	TAT		0.478	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1	NM_004216		40	40	0	0	0	1	0	40	40				
CSMD3	114788	broad.mit.edu	37	8	114448977	114448977	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr8:114448977T>A	ENST00000297405.5	-	1	351	c.107A>T	c.(106-108)aAg>aTg	p.K36M	CSMD3_ENST00000352409.3_Missense_Mutation_p.K36M|CSMD3_ENST00000455883.2_Missense_Mutation_p.K36M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCCATTTTCTTCATCAGGAT	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(106-108)aAg>aTg		CUB and Sushi multiple domains 3							160.0	163.0	162.0					8																	114448977		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114448977T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.107A>T	8.37:g.114448977T>A	ENSP00000297405:p.Lys36Met	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000455883.2_Missense_Mutation_p.K36M|CSMD3_ENST00000352409.3_Missense_Mutation_p.K36M	p.K36M	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			1	351	-			36					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.107A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.566535	0.28003	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.26223	2.09;1.75;2.09	5.82	4.63	0.57726	.	0.367343	0.19539	N	0.111858	T	0.24122	0.0584	N	0.08118	0	0.27776	N	0.943335	P;D;D;P	0.69078	0.891;0.995;0.997;0.826	P;P;P;P	0.60415	0.73;0.847;0.874;0.541	T	0.05767	-1.0865	10	0.46703	T	0.11	.	8.5911	0.33688	0.0:0.1493:0.0:0.8507	.	36;36;36;36	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	M	36	ENSP00000297405:K36M;ENSP00000412263:K36M;ENSP00000343124:K36M	ENSP00000297405:K36M	K	-	2	0	CSMD3	114518153	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.958000	0.40402	0.983000	0.38602	0.533000	0.62120	AAG		0.507	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		6	122	0	0	0	1	0	6	122				
ALDH2	217	broad.mit.edu	37	12	112230450	112230450	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr12:112230450G>C	ENST00000261733.2	+	9	1008	c.947G>C	c.(946-948)gGc>gCc	p.G316A	ALDH2_ENST00000416293.3_Missense_Mutation_p.G269A	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	316					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	TTCAACCAGGGCCAGTGCTGC	0.632			T	HMGA2	leiomyoma																																	ENST00000261733.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(946-948)gGc>gCc		aldehyde dehydrogenase 2 family (mitochondrial)	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)						30.0	28.0	29.0					12																	112230450		2203	4300	6503	SO:0001583	missense	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112230450G>C	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.947G>C	12.37:g.112230450G>C	ENSP00000261733:p.Gly316Ala		Somatic				ALDH2_ENST00000416293.3_Missense_Mutation_p.G269A	p.G316A	NM_000690.3	NP_000681.2	WXS	Illumina GAIIx	Phase_I	P05091	ALDH2_HUMAN			9	1008	+			316					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	c.947G>C	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025251	0.75390	.	.	ENSG00000111275	ENST00000416293;ENST00000261733;ENST00000553044;ENST00000552234	T;T	0.65549	-0.16;-0.16	5.75	4.86	0.63082	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.043918	0.85682	N	0.000000	D	0.88607	0.6482	H	0.99619	4.66	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;0.977;1.0	D	0.93524	0.6864	10	0.87932	D	0	.	14.979	0.71299	0.0684:0.0:0.9316:0.0	.	269;240;316	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	A	269;316;240;176	ENSP00000403349:G269A;ENSP00000261733:G316A	ENSP00000261733:G316A	G	+	2	0	ALDH2	110714833	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	9.363000	0.97131	1.435000	0.47434	0.655000	0.94253	GGC		0.632	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		6	9	0	0	0	1	0	6	9				
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		82	Substitution - Missense(82)	p.Q209L(80)|p.Q209P(2)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		Somatic				GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	WXS	Illumina GAIIx	Phase_I	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		22	18	0	0	0	1	0	22	18				
SNX20	124460	broad.mit.edu	37	16	50707379	50707379	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr16:50707379G>A	ENST00000330943.4	-	4	1060	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570241.2_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	297					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GTGGGCCTCCGGAGCTGGCTC	0.662																																						ENST00000330943.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						c.(889-891)Cgg>Tgg		sorting nexin 20							38.0	42.0	41.0					16																	50707379		2192	4297	6489	SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707379G>A	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.889C>T	16.37:g.50707379G>A	ENSP00000332062:p.Arg297Trp		Somatic				SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	p.R297W	NM_182854.2	NP_878274.1	WXS	Illumina GAIIx	Phase_I	Q7Z614	SNX20_HUMAN			4	1060	-			297					A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.889C>T	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134001	0.77662	.	.	ENSG00000167208	ENST00000330943;ENST00000413750	T	0.33216	1.42	5.67	5.67	0.87782	.	0.593626	0.16759	N	0.200718	T	0.46425	0.1392	L	0.60455	1.87	0.29623	N	0.846035	D	0.76494	0.999	P	0.57720	0.826	T	0.47156	-0.9139	10	0.66056	D	0.02	-34.8905	12.575	0.56359	0.0:0.0:0.7916:0.2083	.	297	Q7Z614	SNX20_HUMAN	W	297;133	ENSP00000332062:R297W	ENSP00000332062:R297W	R	-	1	2	SNX20	49264880	0.055000	0.20627	0.717000	0.30585	0.897000	0.52465	2.229000	0.42990	2.676000	0.91093	0.561000	0.74099	CGG		0.662	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		26	32	0	0	0	1	0	26	32				
SYNE2	23224	broad.mit.edu	37	14	64686021	64686022	+	Frame_Shift_Ins	INS	-	-	C	rs148199074		TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr14:64686021_64686022insC	ENST00000344113.4	+	109	19896_19897	c.19684_19685insC	c.(19684-19686)gccfs	p.A6562fs	SYNE2_ENST00000554584.1_Frame_Shift_Ins_p.A6478fs|SYNE2_ENST00000357395.3_Frame_Shift_Ins_p.A2947fs|SYNE2_ENST00000394768.2_Frame_Shift_Ins_p.A2947fs|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Frame_Shift_Ins_p.A3219fs|SYNE2_ENST00000358025.3_Frame_Shift_Ins_p.A6585fs|SYNE2_ENST00000554805.1_Frame_Shift_Ins_p.A345fs|SYNE2_ENST00000555022.1_Frame_Shift_Ins_p.A440fs|SYNE2_ENST00000441438.2_Frame_Shift_Ins_p.A93fs|SYNE2_ENST00000458046.2_Frame_Shift_Ins_p.A219fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6562					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.A6585S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGATATCAGCGCCATCACTACT	0.426																																						ENST00000357395.3																			1	Substitution - Missense(1)	p.A6585S(1)	lung(1)	NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8839-8841)gccfs		spectrin repeat containing, nuclear envelope 2																																				SO:0001589	frameshift_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64686021_64686022insC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19686dupC	14.37:g.64686023_64686023dupC	ENSP00000341781:p.Ala6562fs		Somatic				SYNE2_ENST00000554805.1_Frame_Shift_Ins_p.A345fs|SYNE2_ENST00000358025.3_Frame_Shift_Ins_p.A6585fs|SYNE2_ENST00000441438.2_Frame_Shift_Ins_p.A93fs|SYNE2_ENST00000458046.2_Frame_Shift_Ins_p.A219fs|SYNE2_ENST00000555022.1_Frame_Shift_Ins_p.A440fs|SYNE2_ENST00000344113.4_Frame_Shift_Ins_p.A6562fs|SYNE2_ENST00000394768.2_Frame_Shift_Ins_p.A2947fs|SYNE2_ENST00000554584.1_Frame_Shift_Ins_p.A6478fs|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Frame_Shift_Ins_p.A3219fs	p.A2947fs			WXS	Illumina GAIIx	Phase_I	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	110	19983_19984	+			6562					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Ins	INS	ENST00000344113.4	37	c.8839_8840insC	CCDS41963.1																																																																																				0.426	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		21	30						21	30	---	---	---	---
OR3A5P	100856809	broad.mit.edu	37	17	3214840	3214840	+	RNA	DEL	T	T	-			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr17:3214840delT	ENST00000573491.1	-	0	359																											CTCCCACCTCTTTTCCAGCTC	0.532																																						ENST00000573491.1																			0																																																			0							g.chr17:3214840delT																													17.37:g.3214840delT			Somatic								WXS	Illumina GAIIx	Phase_I					0	359	-									RNA	DEL	ENST00000573491.1	37																																																																																						0.532	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1			2	4						2	4	---	---	---	---
PPP5C	5536	broad.mit.edu	37	19	46893539	46893539	+	Splice_Site	DEL	A	A	-			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr19:46893539delA	ENST00000012443.4	+	13	1540		c.e13-1		PPP5C_ENST00000391919.1_Splice_Site|AC007193.8_ENST00000598616.1_RNA	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit						cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CTGGTCCCACAGCCTCATCCC	0.642																																						ENST00000012443.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18						c.e13-1		protein phosphatase 5, catalytic subunit							87.0	63.0	71.0					19																	46893539		2202	4297	6499	SO:0001630	splice_region_variant	5536				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr19:46893539delA		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.1438-1A>-	19.37:g.46893539delA			Somatic				PPP5C_ENST00000391919.1_Splice_Site		NM_006247.3	NP_006238.1	WXS	Illumina GAIIx	Phase_I	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	13	1540	+		Ovarian(192;0.0731)|all_neural(266;0.196)						Q16722|Q53XV2	Splice_Site	DEL	ENST00000012443.4	37		CCDS12684.1																																																																																				0.642	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247	Intron	2	4						2	4	---	---	---	---
